Product Details

SNP ID

rs61469810

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.7:99836455 on Build GRCh38

Set Membership

DME Validated Inventoried

Context Sequence [VIC/FAM]

TGGCTTTCTCTTTTATTTTATAGTT[A/-]TGGGACCCATTCACATAAACTTTTT

Phenotype

MIM: 606534

Polymorphism

A/-, Insertion/deletion

Allele Nomenclature

CYP3A43*2A,g.8340A>del CYP3A43*2A,g.8340delA CYP3A43*2B,g.8340A>del CYP3A43*2B,g.8340delA

Literature Links

CYP3A43 PubMed Links

Gene Details

Gene

CYP3A43

Gene Name

cytochrome P450 family 3 subfamily A member 43

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278921.1	177	Frame Shift Delete	TAT,TTG	Y25L	NP_001265850.1
NM_022820.4	177	Frame Shift Delete	TAT,TTG	Y25L	NP_073731.1
NM_057095.2	177	Frame Shift Delete	TAT,TTG	Y25L	NP_476436.1
NM_057096.3	177	Frame Shift Delete	TAT,TTG	Y25L	NP_476437.1
XM_017012542.1	177	Intron			XP_016868031.1
XM_017012543.1	177	Intron			XP_016868032.1
XM_017012544.1	177	Intron			XP_016868033.1
XM_017012545.1	177	Intron			XP_016868034.1

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